MAGI2
Function
Seems to act as a scaffold molecule at synaptic junctions by assembling neurotransmitter receptors and cell adhesion proteins (By similarity). Plays a role in nerve growth factor (NGF)-induced recruitment of RAPGEF2 to late endosomes and neurite outgrowth (By similarity). May play a role in regulating activin-mediated signaling in neuronal cells (By similarity). Enhances the ability of PTEN to suppress AKT1 activation (PubMed:10760291). Plays a role in receptor-mediated clathrin-dependent endocytosis which is required for ciliogenesis (By similarity).
Involvement in disease
Nephrotic syndrome 15
NPHS15
A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. NPHS15 is an autosomal recessive form with onset in the first months of life. Disease severity is variable. Some patients show rapid progression to end-stage renal failure.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the MAGUK family.
Tissue Specificity
Specifically expressed in brain.
Cellular localization
- Cytoplasm
- Late endosome
- Synapse
- Synaptosome
- Cell membrane
- Peripheral membrane protein
- Cytoplasm
- Cytoskeleton
- Microtubule organizing center
- Centrosome
- Cell projection
- Cilium
- Cytoplasm
- Cytoskeleton
- Microtubule organizing center
- Centrosome
- Centriole
- Photoreceptor inner segment
- Cell projection
- Cilium
- Photoreceptor outer segment
- Localized diffusely in the cytoplasm before nerve growth factor (NGF) stimulation. Recruited to late endosomes after NGF stimulation. Membrane-associated in synaptosomes (By similarity).
Alternative names
ACVRINP1, AIP1, KIAA0705, MAGI2, Atrophin-1-interacting protein 1, Atrophin-1-interacting protein A, Membrane-associated guanylate kinase inverted 2, AIP-1, MAGI-2